Gene Gene information from NCBI Gene database.
Entrez ID 23389
Gene name Mediator complex subunit 13L
Gene symbol MED13L
Synonyms (NCBI Gene)
MRFACDPROSIT240THRAP2TRAP240L
Chromosome 12
Chromosome location 12q24.21
Summary The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the he
SNPs SNP information provided by dbSNP.
97
SNP ID Visualize variation Clinical significance Consequence
rs121918333 T>C Pathogenic Coding sequence variant, missense variant
rs147976828 G>-,GG Pathogenic Frameshift variant, coding sequence variant
rs370245982 G>A Conflicting-interpretations-of-pathogenicity Intron variant
rs869025286 CT>- Pathogenic Coding sequence variant, frameshift variant
rs869025287 GCCAATAT>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
819
miRTarBase ID miRNA Experiments Reference
MIRT016185 hsa-miR-590-3p Sequencing 20371350
MIRT027821 hsa-miR-98-5p Microarray 19088304
MIRT028166 hsa-miR-93-5p Sequencing 20371350
MIRT052519 hsa-let-7a-5p CLASH 23622248
MIRT051444 hsa-let-7e-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IEA
GO:0003713 Function Transcription coactivator activity IDA 22249253
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0006357 Process Regulation of transcription by RNA polymerase II IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608771 22962 ENSG00000123066
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q71F56
Protein name Mediator of RNA polymerase II transcription subunit 13-like (Mediator complex subunit 13-like) (Thyroid hormone receptor-associated protein 2) (Thyroid hormone receptor-associated protein complex 240 kDa component-like)
Protein function Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11597 Med13_N 11 261 Mediator complex subunit 13 N-terminal Domain
PF18296 MID_MedPIWI 1416 1760 MID domain of medPIWI Domain
PF06333 Med13_C 1796 2199 Mediator complex subunit 13 C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain. {ECO:0000269|PubMed:14638541, ECO:0000269|PubMed:15145061}.
Sequence
MTAAANWVANGASLEDCHSNLFSLAELTGIKWRRYNFGGHGDCGPIISAPAQDDPILLSF
IRCLQANLLCVWRRDVKPDCKELWIFWWGDEPNLVGVIHHELQVVEEGLWENGLSYECRT
LLFKAIHNLLERCLMDKNFVRIGKWFVRPYEKDEKPVNKSEHLSCAFTFFLHGESNVCTS
VEIAQHQPIYLINEEHIHMAQSSPAPFQVLVSPYGLNGTLTGQAYKMSDPATRKLIEEWQ
YFYPMVLKKKEESKEEDELGY
DDDFPVAVEVIVGGVRMVYPSAFVLISQNDIPVPQSVAS
AGGHIAVGQQGLGSVKDPSNCGMPLTPPTSPEQAILGESGGMQSAASHLVSQDGGMITMH
SPKRSGKIPPKLHNHMVHRVWKECILNRTQSKRSQMSTPTLEEEPASNPATWDFVDPTQR
VSCSCSRHKLLKRCAVGPNRPPTVSQPGFSAGPSSSSSLPPPASSKHKTAERQEKGDKLQ
KRPLIPFHHRPSVAEELCMEQDTPGQKLGLAGIDSSLEVSSSRKYDKQMAVPSRNTSKQM
NLNPMDSPHSPISPLPPTLSPQPRGQETESLDPPSVPVNPALYGNGLELQQLSTLDDRTV
LVGQRLPLMAEVSETALYCGIRPSNPESSEKWWHSYRLPPSDDAEFRPPELQGERCDAKM
EVNSESTALQRLLAQPNKRFKIWQDKQPQLQPLHFLDPLPLSQQPGDSLGEVNDPYTFED
GDIKYIFTANKKCKQGTEKDSLKKNKSEDGFGTKDVTTPGHSTPVPDGKNAMSIFSSATK
TDVRQDNAAGRAGSSSLTQVTDLAPSLHDLDNIFDNSDDDELGAVSPALRSSKMPAVGTE
DRPLGKDGRAAVPYPPTVADLQRMFPTPPSLEQHPAFSPVMNYKDGISSETVTALGMMES
PMVSMVSTQLTEFKMEVEDGLGSPKPEEIKDFSYVHKVPSFQPFVGSSMFAPLKMLPSHC
LLPLKIPDACLFRPSWAIPPKIEQLPMPPAATFIRDGYNNVPSVGSLADPDYLNTPQMNT
PVTLNSAAPASNSGAGVLPSPATPRFSVPTPRTPRTPRTPRGGGTASGQGSVKYDSTDQG
SPASTPSTTRPLNSVEPATMQPIPEAHSLYVTLILSDSVMNIFKDRNFDSCCICACNMNI
KGADVGLYIPDSSNEDQYRCTCGFSAIMNRKLGYNSGLFLEDELDIFGKNSDIGQAAERR
LMMCQSTFLPQVEGTKKPQEPPISLLLLLQNQHTQPFASLNFLDYISSNNRQTLPCVSWS
YDRVQADNNDYWTECFNALEQGRQYVDNPTGGKVDEALVRSATVHSWPHSNVLDISMLSS
QDVVRMLLSLQPFLQDAIQKKRTGRTWENIQHVQGPLTWQQFHKMAGRGTYGSEESPEPL
PIPTLLVGYDKDFLTISPFSLPFWERLLLDPYGGHRDVAYIVVCPENEALLEGAKTFFRD
LSAVYEMCRLGQHKPICKVLRDGIMRVGKTVAQKLTDELVSEWFNQPWSGEENDNHSRLK
LYAQVCRHHLAPYLATLQLDSSLLIPPKYQTPPAAAQGQATPGNAGPLAPNGSAAPPAGS
AFNPTSNSSSTNPAASSSASGSSVPPVSSSASAPGISQISTTSSSGFSGSVGGQNPSTGG
ISADRTQGNIGCGGDTDPGQSSSQPSQDGQESVTERERIGIPTEPDSADSHAHPPAVVIY
MVDPFTYAAEEDSTSGNFWLLSLMRCYTEMLDNLPEHMRNSFILQIVPCQYMLQTMKDEQ
VFYIQYLKSMAFSVYCQCRR
PLPTQIHIKSLTGFGPAASIEMTLKNPERPSPIQLYSPPF
ILAPIKDKQTELGETFGEASQKYNVLFVGYCLSHDQRWLLASCTDLHGELLETCVVNIAL
PNRSRRSKVSARKIGLQKLWEWCIGIVQMTSLPWRVVIGRLGRLGHGELKDWSILLGECS
LQTISKKLKDVCRMCGISAADSPSILSACLVAMEPQGSFVVMPDAVTMGSVFGRSTALNM
QSSQLNTPQDASCTHILVFPTSSTIQVAPANYPNEDGFSPNNDDMFVDLPFPDDMDNDIG
ILMTGNLHSSPNSSPVPSPGSPSGIGVGSHFQHSRSQGERLLSREAPEELKQQPLALGYF
VSTAKAENLPQWFWSSCPQAQNQCPLFLKASLHHHISVAQTDELLPARNSQRVPHPLDSK
TTSDVLRFVLEQYNALSWLTCNPATQDRTSCLPVHFVVL
TQLYNAIMNIL
Sequence length 2210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thyroid hormone signaling pathway   PPARA activates gene expression
Transcriptional regulation of white adipocyte differentiation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1205
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Pathogenic rs1592919048 RCV001291369
Cardiac anomalies - developmental delay - facial dysmorphism syndrome Pathogenic; Likely pathogenic rs1877403231, rs1877686983, rs2137373056, rs2137446876, rs2137307992, rs2137274539, rs2137241977, rs2137216530, rs2137373566, rs2137264830, rs2137287115, rs2137404791, rs2137278830, rs2137307119, rs2137290161
View all (97 more)
RCV001336283
RCV001336282
RCV001788493
RCV001788492
RCV005253849
RCV001542678
RCV001637968
RCV001771828
RCV001775236
RCV001775258
RCV001801318
RCV001807886
RCV001809200
RCV002226834
RCV002250110
RCV002250980
RCV002251297
RCV002273066
RCV002273192
RCV002274458
RCV002274459
RCV002276497
RCV002288265
RCV002288999
RCV002302430
RCV002465413
RCV002471712
RCV002471722
RCV002471753
RCV002471765
RCV002471775
RCV002471815
RCV002472260
RCV000207251
RCV000207025
RCV000207115
RCV000207262
RCV000209902
RCV000209918
RCV003147951
RCV003153035
RCV001265311
RCV003214132
RCV003224951
RCV002470833
RCV003315112
RCV003326173
RCV003327359
RCV003329108
RCV003492903
RCV003756654
RCV003883266
RCV003984932
RCV003985955
RCV003991085
RCV004527092
RCV004555743
RCV004594865
RCV000415412
RCV000498873
RCV000497802
RCV001265313
RCV001265312
RCV000515945
RCV000515822
RCV001265262
RCV001265314
RCV000496190
RCV000496127
RCV000496142
RCV001265317
RCV000498077
RCV001265315
RCV000578378
RCV002265810
RCV001265257
RCV002470928
RCV000624742
RCV001265259
RCV001265261
RCV000656525
RCV000677653
RCV000677654
RCV000677655
RCV000760216
RCV000760236
RCV000768427
RCV000824866
RCV000995578
RCV001265126
RCV001027687
RCV001192633
RCV001196006
RCV001198571
RCV001249646
RCV001252064
RCV001253317
RCV001253414
RCV005866901
RCV001775161
RCV001258350
RCV001262409
RCV001265128
RCV001265258
RCV001265255
RCV001265310
RCV001265260
RCV001265256
RCV003985490
RCV003314683
RCV001290360
RCV001290361
Chromatinopathy Pathogenic rs1877531485 RCV001261221
Delayed speech and language development Pathogenic rs1555247805 RCV000626928
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs150222863 RCV005895349
Cholangiocarcinoma Benign rs12422761 RCV005925166
Colon adenocarcinoma Benign; Likely benign rs150222863, rs35517594 RCV005895348
RCV005871281
Genetic developmental and epileptic encephalopathy Likely benign rs1005060536 RCV005626740
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 28645799, 30905399
Alcohol Related Disorders Associate 37512036
Apraxias Associate 25758992
Ataxia Associate 25712080, 28645799
Autistic Disorder Associate 25167861, 28645799
Carcinoma Renal Cell Associate 28626070
Chromosome 1p36 Deletion Syndrome Associate 25712080
Cleft Palate Associate 25712080
Clubfoot Associate 37512036
Cognition Disorders Associate 25167861